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DNA Sequencing for Genetic Disorders

N/A
Recruiting
Led By Konstantinos N. Lazaridis, M.D.
Research Sponsored by Mayo Clinic
Eligibility Criteria Checklist
Specific guidelines that determine who can or cannot participate in a clinical trial
Must have
Age >= 18 years
Be older than 18 years old
Timeline
Screening 3 weeks
Treatment Varies
Follow Up up to 5 years
Awards & highlights

Study Summary

This trial looks at how DNA sequencing can be used to improve healthcare. It also develops ways to include genomic information from DNA sequencing into electronic health records.

Who is the study for?
This trial is for adults over 18 who can send a saliva sample from within the US, are Mayo Clinic patients with email and web access, and can consent to participate. Pregnant women may join but should consult their OB provider for prenatal genetic concerns. People with bone marrow transplants, active blood cancers, New York residency, or conditions affecting study participation (like dementia) cannot join.Check my eligibility
What is being tested?
The trial is exploring how DNA sequencing affects healthcare by integrating genomic data into electronic health records to create a 'Health Tapestry.' It aims to identify genetic variants that could influence disease risk and improve prevention, diagnosis, or treatment.See study design
What are the potential side effects?
There are no direct physical side effects from participating in this study as it involves non-invasive procedures like biospecimen collection and questionnaires. However, learning about one's genetic risks might have psychological impacts or lead to changes in medical management.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below
Select...
I am 18 years old or older.

Timeline

Screening ~ 3 weeks
Treatment ~ Varies
Follow Up ~up to 5 years
This trial's timeline: 3 weeks for screening, Varies for treatment, and up to 5 years for reporting.

Treatment Details

Study Objectives

Outcome measures can provide a clearer picture of what you can expect from a treatment.
Primary outcome measures
Actionable genetic findings derived from whole exome sequencing (WES) testing
Creation of a unique vertically integrated data asset (Mayo Clinic Health Tapestry)
Effect of actionable genetic findings of patients on health-care utilization
+2 more

Side effects data

From 2021 Phase 3 trial • 105 Patients • NCT01041638
98%
33900-Fever
97%
42600-Hypoalbuminemia
95%
13200-Anemia
93%
65800-Platelet count decreased
92%
42700-Hypocalcemia
91%
43300-Hyponatremia
88%
15000-Aspartate aminotransferase increased
87%
11600-Alanine aminotransferase increased
86%
88500-White blood cell decreased
84%
53700-Lymphocyte count decreased
82%
74500-Sinus tachycardia
82%
43100-Hypokalemia
81%
42400-Hypertriglyceridemia
79%
60600-Pain
78%
43600-Hypotension
71%
23800-Cough
67%
10300-Abdominal pain
66%
43500-Hypophosphatemia
66%
26200-Dry skin
64%
58300-Neutrophil count decreased
63%
87900-Vomiting
60%
68400-Pruritus
59%
41400-Hyperglycemia
58%
25700-Diarrhea
56%
69700-Rash maculo-papular
54%
42100-Hypertension
54%
88200-Weight gain
54%
28200-Edema face
53%
57600-Nausea
51%
19800-Capillary leak syndrome
46%
60700-Pain in extremity
44%
84100-Urticaria
41%
68300-Proteinuria
41%
42900-Hypoglycemia
39%
43200-Hypomagnesemia
35%
39300-Hematuria
35%
28300-Edema limbs
35%
23400-Constipation
34%
41600-Hyperkalemia
33%
33200-Fatigue
33%
71600-Respiratory thoracic and mediastinal disorders - Other
32%
20500-Catheter related infection
32%
48700-Irritability
32%
12000-Allergic reaction
31%
13500-Anorexia
31%
43900-Hypoxia
30%
38800-Headache
30%
24100-Creatinine increased
29%
83000-Urinary retention
27%
12200-Alopecia
25%
41300-Hypercalcemia
24%
16200-Back pain
23%
11400-Agitation
22%
57500-Nasal congestion
20%
88300-Weight loss
20%
21500-Chills
20%
44800-Infections and infestations - Other
19%
37500-GGT increased
19%
11800-Alkaline phosphatase increased
19%
74700-Skin and subcutaneous tissue disorders - Other
16%
41700-Hypermagnesemia
16%
88400-Wheezing
15%
45200-Injection site reaction
15%
63600-Periorbital edema
14%
17400-Blood bilirubin increased
14%
12100-Allergic rhinitis
13%
13700-Anxiety
13%
31900-Eye disorders - Other
13%
10100-Abdominal distension
13%
24700-Dehydration
13%
57800-Neck pain
12%
27800-Dyspnea
12%
41800-Hypernatremia
11%
64100-Peripheral sensory neuropathy
10%
21200-Cheilitis
10%
19300-Bronchospasm
10%
38900-Hearing impaired
10%
52800-Localized edema
10%
38500-Hallucinations
10%
56500-Myalgia
9%
39400-Hemoglobin increased
9%
13100-Anaphylaxis
9%
29500-Enterocolitis infectious
9%
82300-Upper respiratory infection
8%
34700-Flushing
8%
58200-Neuralgia
8%
19400-Bruising
8%
86400-Vascular access complication
8%
10900-Activated partial thromboplastin time prolonged
8%
29900-Erythema multiforme
7%
74200-Sinus bradycardia
7%
77900-Stomach pain
7%
76800-Sore throat
7%
76700-Somnolence
7%
45900-Insomnia
7%
23000-Confusion
6%
76200-Sneezing
6%
20100-Cardiac disorders - Other
6%
33300-Febrile neutropenia
6%
58600-Non-cardiac chest pain
6%
36400-Gastritis
6%
75200-Skin infection
6%
83100-Urinary tract infection
6%
15400-Atelectasis
6%
21400-Chest wall pain
5%
34400-Flatulence
5%
18200-Bone pain
5%
42200-Hyperthyroidism
5%
45800-INR increased
5%
28400-Edema trunk
5%
51800-Lethargy
5%
53100-Lung infection
5%
32100-Eye pain
5%
36700-Gastrointestinal disorders - Other
5%
83500-Urine discoloration
5%
69600-Rash acneiform
5%
83600-Urine output decreased
5%
10700-Acidosis
5%
43800-Hypothyroidism
5%
17800-Blurred vision
4%
19700-Buttock pain
4%
71700-Restlessness
4%
59700-Oral pain
4%
54000-Malaise
4%
78100-Stridor
4%
55400-Movements involuntary
4%
83300-Urinary tract pain
4%
29700-Epistaxis
4%
65900-Pleural effusion
4%
75300-Skin ulceration
4%
25600-Device related infection
4%
53800-Lymphocyte count increased
4%
37200-General disorders and administration site conditions - Other
4%
45000-Infusion related reaction
4%
60100-Otitis media
4%
67600-Productive cough
4%
27600-Dysphagia
4%
29400-Enterocolitis
3%
78900-Supraventricular tachycardia
3%
21300-Chest pain - cardiac
3%
65600-Photophobia
3%
36500-Gastroesophageal reflux disease
3%
48400-Investigations - Other
3%
28000-Ear pain
3%
55600-Mucositis oral
3%
25900-Dizziness
3%
86500-Vascular disorders - Other
3%
75100-Skin induration
3%
26000-Dry eye
3%
26100-Dry mouth
3%
35000-Gait disturbance
3%
72600-Rhinitis infective
3%
81300-Tremor
3%
25400-Depression
3%
68500-Psychiatric disorders - Other
3%
65200-Pharyngitis
3%
21700-Cholesterol high
3%
66300-Pneumonitis
3%
68700-Pulmonary edema
2%
63100-Pericardial effusion
2%
11100-Acute kidney injury
2%
81900-Typhlitis
2%
27900-Ear and labyrinth disorders - Other
2%
61000-Palpitations
2%
17200-Blood and lymphatic system disorders - Other
2%
11500-Akathisia
2%
71000-Renal and urinary disorders - Other
2%
14700-Arthralgia
2%
62100-Paresthesia
2%
14100-Apnea
2%
12800-Anal pain
2%
80200-Toothache
2%
32500-Facial pain
2%
34600-Flu like symptoms
2%
45700-Injury poisoning and procedural complications - Other
2%
54900-Metabolism and nutrition disorders - Other
2%
41100-Hot flashes
2%
65300-Pharyngolaryngeal pain
2%
59300-Optic nerve disorder
2%
24400-Cytokine release syndrome
2%
74600-Sinusitis
2%
25500-Dermatitis radiation
2%
42500-Hyperuricemia
2%
58100-Nervous system disorders - Other
2%
73600-Seizure
2%
62900-Penile pain
2%
19000-Bronchial stricture
2%
74900-Skin hyperpigmentation
2%
75000-Skin hypopigmentation
2%
27500-Dyspepsia
2%
41000-Hoarseness
2%
65700-Photosensitivity
2%
37300-Generalized muscle weakness
2%
56300-Musculoskeletal and connective tissue disorder - Other
1%
20000-Cardiac arrest
1%
44200-Ileal obstruction
1%
22400-Colonic obstruction
1%
21800-Chronic kidney disease
1%
53900-Malabsorption
1%
34200-Flank pain
1%
18100-Bone marrow hypocellular
1%
57300-Nail loss
1%
42300-Hypertrichosis
1%
79000-Surgical and medical procedures - Other
1%
25800-Disseminated intravascular coagulation
1%
81400-Tricuspid valve disease
1%
37600-Gingival pain
1%
76000-Small intestine infection
1%
15300-Ataxia
1%
42000-Hypersomnia
1%
63900-Peripheral motor neuropathy
1%
17100-Bloating
1%
22100-Colitis
1%
39800-Hemorrhoidal hemorrhage
1%
70800-Rectal ulcer
1%
22000-Cognitive disturbance
1%
25300-Depressed level of consciousness
1%
79600-Thromboembolic event
1%
54500-Meningismus
1%
40700-Hiccups
1%
72200-Retinoic acid syndrome
1%
73700-Sepsis
1%
59000-Oculomotor nerve disorder
1%
25000-Delirium
1%
31600-External ear pain
1%
11200-Adrenal insufficiency
1%
29200-Endocrine disorders - Other
1%
41900-Hyperparathyroidism
1%
43400-Hypoparathyroidism
1%
23200-Conjunctivitis
1%
61900-Papilledema
1%
73200-Scleral disorder
1%
36900-Gastrointestinal pain
1%
43700-Hypothermia
1%
18800-Bronchial infection
1%
23300-Conjunctivitis infective
1%
62000-Papulopustular rash
1%
66800-Postoperative hemorrhage
1%
22800-Concentration impairment
1%
54400-Memory impairment
1%
58700-Nystagmus
1%
67200-Premature delivery
1%
54100-Mania
1%
82800-Urinary frequency
1%
82900-Urinary incontinence
1%
83400-Urinary urgency
1%
37400-Genital edema
1%
62600-Pelvic pain
1%
71400-Reproductive system and breast disorders - Other
1%
85600-Vaginal inflammation
1%
51600-Laryngospasm
1%
19500-Bullous dermatitis
1%
74800-Skin atrophy
1%
32200-Eyelid function disorder
1%
30400-Esophageal infection
1%
55500-Mucosal infection
1%
57200-Nail infection
1%
62200-Paronychia
1%
28700-Electrocardiogram QT corrected interval prolonged
1%
51500-Laryngopharyngeal dysesthesia
1%
66200-Pleuritic pain
1%
66700-Postnasal drip
1%
60900-Palmar-plantar erythrodysesthesia syndrome
1%
49800-Joint range of motion decreased
1%
55900-Muscle weakness lower limb
100%
80%
60%
40%
20%
0%
Study treatment Arm
Chimeric Antibody 14.18 With GM-CSF, IL-2 and Isotretinoin

Trial Design

1Treatment groups
Experimental Treatment
Group I: Screening (biospecimen collection, genetic analysis)Experimental Treatment4 Interventions
Participants receive a saliva kit, register with Helix then undergo collection of saliva sample which is returned o Helix. Participants also receive an online link to complete the About Me family history. Once sequencing is completed by Helix, ancestry/trait information and genetic findings are shared with participants and their primary provider, if applicable. Participants with positive results are offered genetic counseling and are encouraged to seek clinical confirmatory testing. Following clinical confirmation, results are scanned into the electronic health record. Participants may also undergo the collection of blood, urine, and stool samples for future studies.
Treatment
First Studied
Drug Approval Stage
How many patients have taken this drug
Biospecimen Collection
2004
Completed Phase 2
~1920

Find a Location

Who is running the clinical trial?

National Cancer Institute (NCI)NIH
13,627 Previous Clinical Trials
40,827,347 Total Patients Enrolled
1 Trials studying Genetic Disorders
14 Patients Enrolled for Genetic Disorders
Mayo ClinicLead Sponsor
3,191 Previous Clinical Trials
3,658,485 Total Patients Enrolled
Konstantinos N. Lazaridis, M.D.Principal InvestigatorMayo Clinic in Rochester

Media Library

Diagnostic Laboratory Biomarker Analysis Clinical Trial Eligibility Overview. Trial Name: NCT05212428 — N/A
Genetic Disorders Research Study Groups: Screening (biospecimen collection, genetic analysis)
Genetic Disorders Clinical Trial 2023: Diagnostic Laboratory Biomarker Analysis Highlights & Side Effects. Trial Name: NCT05212428 — N/A
Diagnostic Laboratory Biomarker Analysis 2023 Treatment Timeline for Medical Study. Trial Name: NCT05212428 — N/A

Frequently Asked Questions

These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.

What is the cap on participation for this experiment?

"A hundred thousand individuals who meet the criteria will be required to enroll in this research endeavour. Potential participants can join from various sites such as Rochester, Minnesota's Mayo Clinic and Jacksonville, Florida's Mayo Clinic location."

Answered by AI

Are any new participants being enrolled in this clinical experiment?

"Clinicaltrials.gov reveals that recruitment for this experiment is still ongoing, with the original posting date being August 1st 2020 and the latest update occurring on May 3rd 2022."

Answered by AI
~29577 spots leftby Dec 2025